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EF Bart's disease: interaction of the abnormal alpha- and beta-globin genes
S Fucharoen1, P Winichagoon, V Thonglairuam
1Faculty of Graduate Studies, Department of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
European Journal of Haematology
|January 1, 1988
Abstract:
EF Bart's disease is an uncommon form of thalassaemia intermedia resulting from the co-inheritance of alpha-thalassaemia and haemoglobin E in the same subject. Starch-gel electrophoresis revealed two phenotypes in 19 patients with EF Bart's. 16 patients had Hbs CS + E + F + Bart's and the remainder had Hbs E + F + Bart's. DNA mapping and haemoglobin electrophoresis indicated that there are four genotypes, involving 5 abnormal globin genes, responsible for this thalassaemia syndrome.